Aliases for WHSC1 Gene
External Ids for WHSC1 Gene
Previous GeneCards Identifiers for WHSC1 Gene
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
GeneCards Summary for WHSC1 Gene
WHSC1 (Wolf-Hirschhorn Syndrome Candidate 1) is a Protein Coding gene. Diseases associated with WHSC1 include wolf-hirschhorn syndrome and myeloma. Among its related pathways are Transcriptional misregulation in cancer and Lysine degradation. GO annotations related to this gene include chromatin binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT1.
UniProtKB/Swiss-Prot for WHSC1 Gene
Histone methyltransferase with histone H3 Lys-27 (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.